FAMILIAL ERYTHROPHAGOCYTIC LYMPHOHISTIOCYTOSIS - NEURORADIOLOGIC EVALUATION WITH PATHOLOGICAL CORRELATION

PURPOSE: To report neuroradiologic findings in eight patients with fam ilial erythrophagocytic lymphohistiocytosis (FEL), a rare, fatal autos omal recessive disease of infancy. MATERIALS AND METHODS: All patients underwent neuroradiologic magnetic resonance (MR) imaging and compute d tomography before and after treatment. MR imaging-guided proton MR s pectroscopy was performed in four. RESULTS: Seizures, focal neurologic deficits, and gait abnormalities were the most common neurologic mani festations. Brain involvement on MR images was progressive and consist ed of parenchymal atrophy, diffuse abnormal signal intensity in the wh ite matter on T2-weighted images, focal hyperintense lesions in both t he white and gray matter, delayed myelination, and parenchymal calcifi cations. MR spectroscopy showed lower ratios of N-acetyl aspartate to total creatine and higher ratios of choline-containing compounds to to tal creatine, suggestive of decreased neuronal density and gliosis. CO NCLUSION: Brain MR imaging and MR spectroscopy allow assessment of the severity of FEL and may aid in monitoring the response to treatment.